Genetic Diseases Diagnosis Center

Clinic evaluation, laboratory tests and analysis and delivery of results accompanied by genetic consultation are conducted integratedly while genetic diagnosis and follow-up services are presented holistically for individuals who apply with genetic disease suspicion/diagnosis in Genetic Diseases Diagnosis Center working under Medical Genetics Clinic. Medical Genetics is a department compromising clinic and laboratory practices oriented towards the diagnosis of hereditary and non-hereditary diseases which occur due to genetic disorders in all age groups, identifying the risks of individuals, relatives or babies to be born by considering such diseases and determination of carrying such risks.  Patients with all types of rare genetic disorder suspicions are evaluated and 'clinic diagnosis' service is provided in Medical Genetics Polyclinic. Patients in all age groups, carrying a genetic disease or having a family member carrying a genetic disease can apply to our center for examination and diagnosis as well as all the necessary tests for the genetic diagnosis of a disease are performed. Patients can apply with their genetic results, benefiting from 'genetic consultation' service. 

Diagnosis and Treatment:

Prenatal and preimplantation genetic diagnosis service are provided by applying molecular cytogenetic techniques such as Conventional Chromosome Analysis, Fluorescence in situ hybridization (FISH), microarray and molecular genetic techniques such as Real-Time Polymerase Chain Reaction, Sanger sequencing, next-generation sequencing, DNA fragment analysis to be performed integratedly in our department. Haematological and oncological malignancies, infertility, recurrent miscarriages, neurogenetic, endocrinological, metabolic and immunological diseases and congenital disorders/mental retardation affecting multiple systems and anomalies identified for hundreds of genetic diseases/conditions can be investigated. Preliminaries are ongoing for preimplantation genetic diagnosis service.

Featured Services In The Department:

Our laboratory is set for preimplantation genetic diagnosis (PGD) service in our department and PGD Service is planned for many identified diseases, particularly for patients to be detected as carrier during SMA screening. Moreover, Whole Exome Sequencing (WES) is performed for the patients with Multiple Congenital Anomalies which cannot be diagnosed by any technique.  

Units of The Department:

Genetic Diseases Diagnosis Center

Medical Genetics Polyclinic

MH1 polyclinics, MH5 polyclinics

Medical Genetics Laboratory

Cytogenetics Laboratory

Molecular Cytogenetic Laboratory

Molecular Genetics Laboratory

Preimplantation Genetic Diagnosis Laboratory

How can I undergo medical examination?

You can undergo medical examination by directly applying to the help desk of the department. You can also contact us at for The General Hospital and for The Maternity Hospital to make an appointment.

The Location of The Department:

- The General Hospital Building (MH1) B1 Floor Medical Genetics Polyclinic

- The Maternity Hospital Building (MH5) B1 Floor Medical Genetics Polyclinic

Frequently Asked Questions:

- Is SMA Screening performed?

No, SMA Screening is performed by The General Directorate of Public Health via Family Medicine Clinics in where you are registered. Individuals who are detected as carriers or individuals whose family has SMA history can apply directly. 

- Is Whole Genome Sequencing performed?

No, WGS is not performed in our department.

- Is Whole Exome Sequencing performed?

Yes, but please make an appointment for comprehensive examination with all the tests and medical reports first. It is performed if required by the decision of The Medical Commitee. 

- Can genetic diseases be prevented?

Precautions can be taken for the next pregnancy by Preimplantation Genetic Testing technique.

- Is Paternity Test performed?

The genetic test for Determination of Fatherhood is not performed in our department. You can apply to Forensic Medicine Institution after receiving forensic report.

- How can I learn my result?

When you are informed that it is concluded, you can apply to the department to receive your result accompanied by genetic consultation